Article
[Mitochondrial tRNAThr G15927A mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation.].
Yi chuan = Hereditas - 1 Oct 2008
Tang Xiao-Wen, Li Zhi-Yuan, Lu Jian-Xin, Zhu Yi, Li Rong-Hua, Wang Jin-Dan, Guan Min-Xin
Abstract excerpt
We report here the clinical and genetic evaluations as well as mutational analysis of mitochondrial DNA (mtDNA) in a four-generation Chinese Han family with aminoglycoside-induced and nonsyndromic hearing loss. Strikingly, this family exhibited a high penetrance and expressivity of hearing loss. The penetrances of hearing loss in this family were 75% and 41.7% respectively, when aminoglycoside-induced deafness...
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